Search Ontology:
Human Disease

rhizomelic chondrodysplasia punctata type 3

Term ID
DOID:0110853
Synonyms
  • AGPS deficiency
  • Alkyldihydroxyacetonephosphate Synthase Deficiency
  • Alkylglycerone-Phosphate Synthase Deficiency
  • RCDP3
Definition
A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the AGPS gene on chromosome 2q31.2. https://www.ncbi.nlm.nih.gov/pubmed/22871920
References
Ontology
Human Disease   ( DOID:0110853 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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